So is this a diagnosis?

[melalthia]

Hi everyone..
So i've been a little confused with whether we received a diagnosis when my mom visited the specialist a few weeks ago. Today she sent me a copy of the letter she sent to my mom's neurologist and I'm finding myself as confused as ever. Or maybe i'm just in denial? The letter was a lot longer but here's the prognosis part of what she wrote:

The patient’s evaluation to date includes a recent brain MRI showing only non-specific white matter lesions per report. On personal review, there also appears to be frontal and parietal lobe atrophy out of proportion to the patient’s age. TSH and B12 were normal. Her EMG was notable only for carpal tunnel syndrome on the right, and was devoid of any abnormalities consistent with lower motor neuron disease.

IMPRESSION/RECOMMENDATIONS

This is a 70 year old woman with approximately one year of progressive dysarthria and dysphagia. On exam, there was emotional lability, dysarthria, tongue apraxia versus upper motor neuron tongue weakness, and hyperreflexia. She did not have any apparent lower motor neuron findings either on exam or on EMG. Her history, exam, and workup thus far is consistent with progressive bulbar palsy. Potential underlying etiologies include corticobasal degeneration (CBD), progressive supranuclear palsy (PSP) or early amyotrophic lateral sclerosis (upper motor neuron predominant).

I have encouraged the patient to consider enrolling in the ongoing PPG research study at the memory and aging center at UCSF to further characterize her syndrome. As part of this study, she would get a high resolution MRI of the brain and a series of neuropsychological tests. Alternatively, the etiology of her syndrome will likely become more apparent over time as she clinically progresses. She should consider a FEES test to further evaluate her swallowing function. I would not recommend any specific pharmacotherapy at this time, but if she develops bothersome spasticity in the future one could consider baclofen or a benzodiazepine. I would be happy to see her again in my clinic for follow up.


I am pleased to be able to participate in the care of this interesting patient. Please do not hesitate to contact me with questions or concerns.


So if everything is "normal" but she still thinks its a MND? Did anyone else have a similar "diagnosis" in the beginning?

thanks for your patience
-mel

 

[halfin]

Hi Mel - I agree that is a complicated statement from the specialist. My reading is that there appears to be a neurological problem but it is not possible to say at this point what exactly it is. Among the possibilities are the list at the end of the 2nd paragraph: PBP, CBD, PSP, ALS (UMN dominant). I am not clear what the specifics are of all these diseases. I think generally they target different parts of the brain. The doctor seems to think that as your mother's disease progresses it will become clearer exactly what she is dealing with.

So at this point I would not say that this is a diagnosis. Clearly there is something seriously wrong but the doctors cannot say at this point exactly what it is. All of these are pretty serious diseases but some have a better prognosis than others.

Hopefully they will follow up with you for symptom management. The most serious worry at this point would be the dysphagia, which means problems eating and swallowing. If she gets to where she is choking on food a lot that can lead to pneumonia. At that point you would want to consider a feeding tube if her overall health allows.

I'm sorry you are having to deal with this and I hope your mom's health stabilizes, and that you can get a more clear diagnosis soon.

 

[melalthia]

Thanks so much, hal. Ugh. this is so frustrating. I'm so confused. When we were at the doctor's, my mom felt like a lab rat because so many people were coming in and giving her different tests. And when they finally came in to tell us what they found, they immediately offered her to this week of further testing. And then seeing the neurologist's comment about my mom being an "interesting patient"? no wonder she felt like a lab rat.

Ok, so another question...
I've been searching thru the forums and i'm getting confused about PBP. Is it its own condition? Or is it a symptom?

-m

 

[lydia]

Melalthia,

I have noticed that specialists, when composing their letters back to the GP, close the letter with some sort of nice polite comment about the opportunity itself to evaluate the patient and something nice about the patient herself. I was once described as "delightful" (which might have been code for sullen but I prefer to think I was really charming). I think the doctor was trying to convey that she genuinely wouldn't mind caring for your mom further, if your mom and her GP were amenable to that. Describing an unresolved case as "interesting" is far better than just sending you packing because you are too much trouble to figure out, as some have experienced. It is understandable your mom feels like a lab rat, but still, I would try and encourage her to become part of the study. The opportunity to have certain tests, that can also be used for diagnostic purposes beyond the research intent, for free and without having to beg insurance companies for permission/coverage (as I had to do when having a brain SPECT), can be worth it.

I also received a lovely list of possibilities and am waiting for the winner to declare itself. Best wishes to you and your mom-

Lydia

 

[Twinsmom]

Hi Mel,
Wow...The report is "clear as mud"... :roll: Definitely see that SOMETHING is wrong, but not sure what:?: Looks like only time will lead to a definitive "opinion".

Progressive Bulbar Palsy is the only clarity given...the why is still vague.

I'm sorry you are all going through the stress of this! Do you have enough of a relationship to have a telephone consult with either the GP or neurologist. I've found that our neurologist will go over impressions and findings "unofficially" but are hesitant to put down a firm diagnosis, until there is 100% confidence in the diagnosis.

Peace,
Melody

 

[melalthia]

mel,
(i'm a melanie, but was almost a melody.

My mom had her appt with her local neurologist today. (the one she trusts and the one this letter was initially sent to.) I haven't heard the outcome yet, but i'm hoping he encouraged her to go do the tests.

Thanks everyone for the imput. Lydia, i hope you get some results SOON... and they are more positive than not.
-mel